Bahi Buisson
Bahi Buisson
Neuropediatre Hopital Necker Enfants Malades Université Paris Descartes
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Cited by
Cited by
Rett syndrome: revised diagnostic criteria and nomenclature
JL Neul, WE Kaufmann, DG Glaze, J Christodoulou, AJ Clarke, ...
Annals of neurology 68 (6), 944-950, 2010
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ...
American journal of medical genetics Part A 167 (2), 296-312, 2015
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
K Poirier, N Lebrun, L Broix, G Tian, Y Saillour, C Boscheron, E Parrini, ...
Nature genetics 45 (6), 639-647, 2013
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
C Depienne, D Bouteiller, B Keren, E Cheuret, K Poirier, O Trouillard, ...
PLoS genetics 5 (2), e1000381, 2009
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
WG Leen, J Klepper, MM Verbeek, M Leferink, T Hofste, BG Van Engelen, ...
Brain 133 (3), 655-670, 2010
Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria
XH Jaglin, K Poirier, Y Saillour, E Buhler, G Tian, N Bahi-Buisson, ...
Nature genetics 41 (6), 746-752, 2009
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
T Bienvenu, K Poirier, G Friocourt, N Bahi, D Beaumont, F Fauchereau, ...
Human molecular genetics 11 (8), 981-991, 2002
Key clinical features to identify girls with CDKL5 mutations
N Bahi-Buisson, J Nectoux, H Rosas-Vargas, M Milh, N Boddaert, ...
Brain 131 (10), 2647-2661, 2008
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation
A Battaglia, HE Hoyme, B Dallapiccola, E Zackai, L Hudgins, ...
Pediatrics 121 (2), 404-410, 2008
Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects
K Poirier, Y Saillour, N Bahi-Buisson, XH Jaglin, C Fallet-Bianco, ...
Human molecular genetics 19 (22), 4462-4473, 2010
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
N Bahi-Buisson, K Poirier, F Fourniol, Y Saillour, S Valence, N Lebrun, ...
Brain 137 (6), 1676-1700, 2014
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)
K Poirier, DA Keays, F Francis, Y Saillour, N Bahi, S Manouvrier, ...
Human mutation 28 (11), 1055-1064, 2007
High prevalence of SLC6A8 deficiency in X-linked mental retardation
EH Rosenberg, LS Almeida, T Kleefstra, RS deGrauw, HG Yntema, ...
The American Journal of Human Genetics 75 (1), 97-105, 2004
Cryo-EM reveals how human cytoplasmic dynein is auto-inhibited and activated
K Zhang, HE Foster, A Rondelet, SE Lacey, N Bahi-Buisson, AW Bird, ...
Cell 169 (7), 1303-1314. e18, 2017
The three stages of epilepsy in patients with CDKL5 mutations
N Bahi‐Buisson, A Kaminska, N Boddaert, M Rio, A Afenjar, M Gérard, ...
Epilepsia 49 (6), 1027-1037, 2008
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities
M Breuss, JIT Heng, K Poirier, G Tian, XH Jaglin, Z Qu, A Braun, T Gstrein, ...
Cell reports 2 (6), 1554-1562, 2012
IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis
N Bahi, G Friocourt, A Carrie, ME Graham, JL Weiss, P Chafey, ...
Human Molecular Genetics 12 (12), 1415-1425, 2003
MRI findings in 77 children with non-syndromic autistic disorder
N Boddaert, M Zilbovicius, A Philipe, L Robel, M Bourgeois, C Barthélemy, ...
PLOS one 4 (2), e4415, 2009
Recessive and dominant de novo ITPR1 mutations cause Gillespie syndrome
S Gerber, KJ Alzayady, L Burglen, D Brémond-Gignac, V Marchesin, ...
The American Journal of Human Genetics 98 (5), 971-980, 2016
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex
N Bahi-Buisson, K Poirier, N Boddaert, C Fallet-Bianco, N Specchio, ...
Brain 133 (11), 3194-3209, 2010
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